{"orpha":716899,"name":"Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis","type":"Etiological subtype","group":"Subtype of disorder","status":"active","flags":[],"synonyms":["CMS due to defective synaptic vesicles exocytosis"],"definition":null,"note":null,"url":"https://raremap.alftech.space/d/ORPHA-716899/","orphanet_url":"https://www.orpha.net/en/disease/detail/716899","names":{"fr":{"name":"Syndrome myasthénique congénital dû à un defaut d'exocytose des vésicules synaptiques"},"de":{"name":"Kongenitales myasthenes Syndrom durch gestörte Exozytose der synaptischen Bläschen","synonyms":["Kongenitales Myastheniesyndrom durch defekte Exozytose synaptischer Vesikel"]},"es":{"name":"Síndrome miasténico congénito por defectos en la exocitosis de las vesículas sinápticas","synonyms":["SMC por defectos en la exocitosis de las vesículas sinápticas"]},"it":{"name":"Sindrome miastenica congenita da difetto nell'esocitosi delle vescicole sinaptiche","synonyms":["CMS da difetto nell'esocitosi delle vescicole sinaptiche","SMC da difetti nell’esocitosi delle vescicole sinaptiche"]},"nl":{"name":"Congenitaal myastheen syndroom door defect van exocytose van synaptische vesikels","synonyms":["CMS door defect van exocytose van synaptische vesikels"]},"pt":{"name":"Congenital myasthenic syndromes due to defective synaptic vesicles exocytosis"},"pl":{"name":"Wrodzone zespoły miasteniczne z powodu wadliwej egzocytozy pęcherzyków synaptycznych","synonyms":["CMS due to defective synaptic vesicles exocytosis"]},"cs":{"name":"Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis","synonyms":["CMS due to defective synaptic vesicles exocytosis"]}},"xrefs":[{"source":"OMIM","code":"616040","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"616330","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"618323","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"619461","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"621455","qualifier":"NTBT","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98914,"name":"Presynaptic congenital myasthenic syndrome","classifications":[147,156,181,189]}],"children":[{"orpha":716908,"name":"Autosomal dominant congenital myasthenic syndrome due to defective synaptic vesicles exocytosis","type":"Etiological subtype"},{"orpha":716903,"name":"Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[],"inheritance":["Autosomal dominant","Autosomal recessive"],"onset":[],"prevalence":[],"phenotypes":null}